Canonical Allele Identifier: CA471371941

Gene: SMC3

Linked Data

• gnomAD v4: 10-110589941-A-C
• MyVariant Identifiers: chr10:g.112349699A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589941A>C , CM000672.2:g.110589941A>C	GRCh38
NC_000010.10:g.112349699A>C , CM000672.1:g.112349699A>C	GRCh37
NC_000010.9:g.112339689A>C	NCBI36
NG_012217.1:g.27251A>C , LRG_774:g.27251A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1359A>C
ENST00000684988.1:n.2104A>C
ENST00000687823.1:n.1373A>C
ENST00000689932.1:n.3522A>C
ENST00000691297.1:n.1592A>C
ENST00000691527.1:n.2262A>C
ENST00000692792.1:n.1578A>C
ENST00000361804.5:c.1459A>C MANE Select	ENSP00000354720.5:p.Arg487=
ENST00000361804.4:c.1459A>C	ENSP00000354720.4:p.Arg487=
NM_005445.3:c.1459A>C , LRG_774t1:c.1459A>C	NP_005436.1:p.Arg487=
NM_005445.4:c.1459A>C MANE Select	NP_005436.1:p.Arg487=